Canonical Allele Identifier: CA1979444694

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868563A= , CM000673.2:g.65868563A=	GRCh38
NC_000011.9:g.65636034A= , CM000673.1:g.65636034A=	GRCh37
NC_000011.8:g.65392610A=	NCBI36
NG_012304.2:g.9372T=
NG_053116.1:g.13502A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.794T= MANE Select	ENSP00000309953.6:p.Phe265=
ENST00000307998.10:c.794T=	ENSP00000309953.6:p.Phe265=
ENST00000526628.5:n.1360T=
ENST00000527969.1:n.1479T=
ENST00000528176.5:c.794T=	ENSP00000434151.1:p.Phe265=
ENST00000531005.5:n.1788T=
ENST00000531972.5:c.794T=	ENSP00000435295.1:p.Phe265=
ENST00000532084.5:n.220T=
NM_016938.4:c.794T=	NP_058634.4:p.Phe265=
NR_037718.1:n.1053T=
NM_016938.5:c.794T= MANE Select	NP_058634.4:p.Phe265=
NR_037718.2:n.919T=